Glycogen Storage Diseases

Question 1

Glucose 6-phosphatase Deficiency

Answer 1

vonGierke’s Disease (Type 1)

Question 2

Lysosomal alpha-1,4 Glucosidase (Acid Maltase) Deficiency

Answer 2

Pompe Disease (Type II) Glycogen accumulates in lysosomes, Sxn: Cardiomyopathy, systemic findings leading to early death, hypotonia, hypoglycemia

Question 3

Debranching enzyme (alpha-1,6-glucosidase) Deficiency

Answer 3

Cori Disease (Type III), Sxn: Milder form of Type 1 with normal blood lactate levels

Question 4

Skeletal muscle glycogen phosphorylase (Myophosphorylase) deficiency

Answer 4

McArdle Disease (Type IV), Sxn: Increased glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria (red urine) with strenuous exercise, arrhythmia from electrolyte imbalances.

Question 5

Sxn: Severe fasting hypoglycemia, Increased glycogen in liver, Increased blood lactate, hepatomegaly, stunted growth, increased TG

Answer 5

vonGierke’s Disease (Type 1)

Question 6

Sxn: Cardiomyopathy, systemic findings leading to early death, hypotonia, hypoglycemia

Answer 6

Pompe Disease (Type II) Glycogen accumulates in lysosomes

Question 7

Sxn: Milder form of Type 1 with normal blood lactate levels

Answer 7

Cori Disease (Type III)

Question 8

Sxn: Increased glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria (red urine) with strenuous exercise, arrhythmia from electrolyte imbalances.

Answer 8

McArdle Disease (Type IV),